What type of mutation causes Tay-Sachs?

Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, a lysosomal enzyme composed of alpha and beta polypeptides.

Where is the Tay-Sachs gene located?

The HEXA gene, which causes Tay-Sachs disease, is located on the long (q) arm of chromosome 15 at position 24.1.

How many mutations cause Tay-Sachs?

At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.

Where did Tay-Sachs disease originated?

The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish ( …

Is Tay-Sachs insertion or deletion?

Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population.

What kind of disease is Tay Sachs disease?

Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).

How old do you have to be to die from Tay Sachs?

By the time a child with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age five. A much rarer form of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and causes neurological and intellectual impairment. Only recently identified, the disease has not been extensively described.

What causes the lack of hexosaminidase in Tay Sachs?

Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain.

How are blood tests used to diagnose Tay Sachs?

Blood samples can be analyzed by either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a person’s blood. Carriers have less Hex-A in their body fluid and cells than non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene that codes for Hex-A.

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